Aliases for ABCB8 Gene
External Ids for ABCB8 Gene
Previous GeneCards Identifiers for ABCB8 Gene
This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
GeneCards Summary for ABCB8 Gene
ABCB8 (ATP Binding Cassette Subfamily B Member 8) is a Protein Coding gene. Diseases associated with ABCB8 include Abcd Syndrome and Anemia, Sideroblastic, And Spinocerebellar Ataxia. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include transporter activity and ATPase activity, coupled to transmembrane movement of substances. An important paralog of this gene is ABCB9.
UniProtKB/Swiss-Prot Summary for ABCB8 Gene
ATP-binding subunit of the mitochondrial potassium channel located in the mitochondrial inner membrane (PubMed:31435016). Together with CCDC51/MITOK, forms a protein complex localized in the mitochondria that mediates ATP-dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel) (PubMed:31435016). Plays a role in mitochondrial iron transport (PubMed:30623799). Required for maintenance of normal cardiac function, possibly by influencing mitochondrial iron export and regulating the maturation of cytosolic iron sulfur cluster-containing enzymes (By similarity).